How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases

Cancers as rare diseases: Terminological, theoretical, and methodological biases

(2021) Carina Marques et al.   International Journal of Paleopathology

A civil society view of rare disease public policy in six Latin American countries

(2020) Mo Mayrides et al.   Orphanet Journal of Rare Diseases

Origin of tuberculosis in the Paleolithic predicts unprecedented population growth and female resistance

(2020) Pere-Joan Cardona et al.   Scientific Reports

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Examining variation in skeletal tuberculosis in a late pre-contact population from the eastern mountains of Peru

(2020) J. Marla Toyne et al.   International Journal of Paleopathology

A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder

(2020) Mirko Traversari et al.   International Journal of Paleopathology

A dual process model for paleopathological diagnosis

(2020) S.A. Mays   International Journal of Paleopathology

Evidence of infectious disease, trauma, disability and deficiency in skeletons from the 19th/20th century correctional facility and asylum «Realta» in Cazis, Switzerland

(2019) Christine Cooper et al.   PLoS One

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two cases of skeletal dysplasia from New Kingdom (c. 1400–1050 BCE) Tombos, Sudan

(2019) Katie M. Whitmore et al.   International Journal of Paleopathology

How many rare diseases are there?

(2019) Melissa Haendel et al.   NATURE REVIEWS DRUG DISCOVERY

A call for global action for rare diseases in Africa

(2019) Gareth S. Baynam et al.   NATURE GENETICS

A rare case of child abuse from early modern Lithuania

(2018) Justina Kozakaitė et al.   International Journal of Paleopathology

The genetic basis of disease

(2018) Maria Jackson et al.   Essays in Biochemistry

The importance of international collaboration for rare diseases research: a European perspective

(2017) D Julkowska et al.   GENE THERAPY

The maid of the Bridal Room by Andrea Mantegna (1431–1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1

(2017) Bianucci Raffaella et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Paleoproteomics of the Dental Pulp: The plague paradigm

(2017) Rémi Barbieri et al.   PLoS One

Towards efficiency in rare disease research: what is distinctive and important?

(2017) Jinmeng Jia et al.   Science China-Life Sciences

A rare probable chondroblastoma of the calcaneus in a pre-Columbian subadult from Illinois

(2017) Maria Ostendorf Smith et al.   International Journal of Paleopathology

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Skeletal Dysplasias

(2015) Deborah Krakow   CLINICS IN PERINATOLOGY

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

(2015) Eun Jin Woo et al.   PLoS One

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

Mass Spectrometric Identification of Ancient Proteins as Potential Molecular Biomarkers for a 2000-Year-Old Osteogenic Sarcoma

(2014) Agnes Bona et al.   PLoS One

Tuberculosis Epidemiology and Selection in an Autochthonous Siberian Population from the 16th-19th Century

(2014) Henri Dabernat et al.   PLoS One

Palaeopathology and genes: Investigating the genetics of infectious diseases in excavated human skeletal remains and mummies from past populations

(2013) Evilena Anastasiou et al.   GENE

Genotype of a historic strain of Mycobacterium tuberculosis

(2012) A. S. Bouwman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A rare naviculocuneiform I coalition from Bronze Age Siberia

(2012) Angela R. Lieverse et al.   International Journal of Paleopathology

The ancient Egyptian dwarfs of the pyramids: The high official and the female worker

(2011) Chahira Kozma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The case for a global rare-diseases registry

(2010) Christopher B Forrest et al.   LANCET

Myths and misconceptions: the origin and evolution of Mycobacterium tuberculosis

(2009) Noel H. Smith et al.   NATURE REVIEWS MICROBIOLOGY

35 years of Japanese policy on rare diseases

(2008) Shuichiro Hayashi et al.   LANCET

Origin, Spread and Demography of the Mycobacterium tuberculosis Complex

(2008) Thierry Wirth et al.   PLoS Pathogens